Abstracts tagged "Genetic Biomarkers"

Abstract Number: 58 • 2016 ACR/ARHP Annual Meeting
Detecting Novel Candidate Risk Genes in Rheumatoid Arthritis with Gene-Based Association Testing
Aleksander Lenert¹ and David Fardo², ¹Internal Medicine, Div. of Rheumatology, University of Kentucky, Lexington, KY, ²Biostatistics, College of Public Health, University of Kentucky, Lexington, KY
Background/Purpose: Rheumatoid arthritis (RA) is driven by immune-system dysfunction with contribution from genetic risk factors. Emerging data from genomewide association studies (GWAS) of single nucleotide…
Abstract Number: 60 • 2016 ACR/ARHP Annual Meeting
A Single Nucleotide Polymorphism of IL6-Receptor Is Associated with Response to Tocilizumab in Rheumatoid Arthritis: Results from Toci and ROC Studies
Cécile Luxembourger¹, Adeline Ruyssen-Witrand², Yannick Degboé³, Alain G. Cantagrel¹, Arnaud CONSTANTIN⁴, Philippe Gaudin⁵, Christian Jorgensen⁶, Jean-Francis Maillefert⁷, Hubert Marotte Sr.⁸, Delphine Nigon⁹, Daniel Wendling¹⁰, Jacques-Eric Gottenberg¹¹ and Yves-marie Pers¹², ¹Rheumatology, Centre Hospitalier Universitaire, Toulouse Purpan, Toulouse, France, ²Rheumatology Center, Purpan University Hospital, Toulouse, France, ³Rheumatology, Rheumatology Center, Purpan University Hospital, Toulouse, France, ⁴Rheumatology, CHU Purpan - Hôpital Pierre-Paul Riquet, Toulouse, France, ⁵Rheumatology, Grenoble University Hospital, France, Grenoble, France, ⁶Inserm u844, Unite ImmunoRhumatologie Therapeutique, Montpellier, France, ⁷Rheumatology, University Hospital, Dijon, France, ⁸CHU de St Etienne, Service de rhumatologie, St Etienne, France, ⁹CHU Purpan, Toulouse, France, ¹⁰Rheumatology, Besançon university hospital, Besançon, France, ¹¹Department of Rheumatology, Strasbourg University Hospital, Strasbourg, France, ¹²coordination RIC SUD, Montpellier, France
Background/Purpose: Biological agents (boDMARDs) have modified the therapeutic management of patients with rheumatoid arthritis (RA). However, boDMARDs can induce sustained remission in only 30% of…
Abstract Number: 67 • 2016 ACR/ARHP Annual Meeting
Polymorphisms of ERAP1, IL23R and TRAILR1 Are Associated with MRI-Sacroiliitis in Early Axial Spondyloarthritis: Data from the French DESIR Cohort
Cécile Luxembourger¹, Yannick Degboé², Alain Cantagrel³, Delphine Nigon⁴, Pascal Claudepierre⁵, Arnaud CONSTANTIN⁶ and Adeline Ruyssen-Witrand⁷, ¹Rheumatology, Centre Hospitalier Universitaire, Toulouse Purpan, Toulouse, France, ²Rheumatology, Rheumatology Center, Purpan University Hospital, Toulouse, France, ³Rheumatology, INSERM CNRS UMR 1043, Paul Sabatier University Toulouse, Purpan Teaching Hospital, Toulouse, France, ⁴CHU Purpan, Toulouse, France, ⁵Hôpital Henri Mondor, Créteil, France, ⁶Rheumatology, CHU Purpan - Hôpital Pierre-Paul Riquet, Toulouse, France, ⁷Rheumatology Center, Purpan University Hospital, Toulouse, France
Polymorphisms of ERAP1, IL23R and TRAILR1 are associated With MRI-Sacroiliitis in Early Axial Spondyloarthritis: Data from the French DESIR Cohort Background/Purpose: Spondyloarthritis (SpA) is a…
Abstract Number: 98 • 2015 ACR/ARHP Annual Meeting
The Mitochondrial DNA (mtDNA) Haplogroups Influence the Risk of Incidence Knee OA. Replication Study Including Data from Check and OAI Cohorts
Ignacio Rego-Pérez¹, Angel Soto-Hermida¹, Juan Fernandez-Tajes¹, Mercedes Fernandez Moreno¹, Maria Eugenia Vazquez Mosquera¹, Estefanía Cortés-Pereira¹, Sonia Pertega², Sara Relaño-Fernandez¹, Natividad Oreiro¹, Carlos Fernandez-Lopez¹ and Francisco J. Blanco¹, ¹Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, ²Unidad de Epidemiología Clínica y Bioestadística. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain
Background/Purpose:Previous studies showed a significant influence of the mtDNA haplogroups on prevalence, radiographic progression and cartilage integrity of knee OA patients from different worldwide cohorts.…
Abstract Number: 101 • 2015 ACR/ARHP Annual Meeting
New Technologies for Typing Self-Identifying Antigens Encoded By HLA Genes Provide Cost-Effective Alternatives to Identifying B27 Allele Status in Rheumatoid Arthritis Subjects
Kimberly Robasky¹, Jatinder Kaur², Jennifer Sims¹, Melissa Howard¹, Eric Earley¹ and Eric Lai², ¹EA|Quintiles, Durham, NC, ²Takeda Pharmaceuticals International, Inc., Deerfield, IL
Background/Purpose: Human leukocyte antigen (HLA) genes code for proteins that allow the immune system to distinguish self from foreign cells. These genes have important indications…
Abstract Number: 103 • 2015 ACR/ARHP Annual Meeting
Axial Disease in Psoriatic Arthritis: Genetic Biomarkers of Psoriatic Spondyloarthritis
Deepak R. Jadon¹, John Bowes², Anne Barton³, Raj Sengupta¹, Alison L Nightingale⁴, Mark Lindsay⁵, Eleanor Korendowych¹, Graham Robinson⁶ and Neil J. McHugh⁷, ¹Rheumatology, Royal National Hospital for Rheumatic Diseases, Bath, United Kingdom, ²Arthritis Research UK Centre for Genetics and Genomics, The University of Manchester, Centre for Musculoskeletal Research, Manchester, United Kingdom, ³Arthritis Research UK Centre for Genetics and Genomics, Centre for Musculoskeletal Research, Manchester Academic Health Science Centre, The University Of Manchester, Manchester, United Kingdom, ⁴Pharmacy and Pharmacology, University of Bath, Bath, United Kingdom, ⁵Pharmacy & Pharmacology, University of Bath, Bath, United Kingdom, ⁶Royal United Hospital, Bath, United Kingdom, ⁷Rheumatology, Royal National Hospital for Rheumatic Diseases, Upper Borough Walls, United Kingdom
Background/Purpose: A lack of well-characterised clinical cohorts has impeded research of the genetics of axial disease in psoriatic arthritis (PsA). We sought to determine genetic…
Abstract Number: 111 • 2015 ACR/ARHP Annual Meeting
The Mitochondrial DNA (mtDNA) Haplogroups Influence the Risk of Radiographic OA Progression. a Meta-Analysis
Angel Soto-Hermida¹, Ignacio Rego-Pérez¹, Juan Fernandez-Tajes¹, Mercedes Fernandez Moreno¹, Maria Eugenia Vazquez Mosquera¹, Estefanía Cortés-Pereira¹, Sara Relaño-Fernandez¹, Sonia Pertega², Natividad Oreiro¹, Carlos Fernandez-Lopez¹ and Francisco J. Blanco¹, ¹Servicio de Reumatología. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain, ²Unidad de Epidemiología Clínica y Bioestadística. Instituto de Investigación Biomédica de A Coruña (INIBIC). Complexo Hospitalario Universitario de A Coruña (CHUAC), Sergas. Universidade da Coruña (UDC), A Coruña, Spain
Background/Purpose: In the last years the role played by the mtDNA haplogroups in the pathogenesis of OA attracted much attention. The aim of this study…
Abstract Number: 754 • 2015 ACR/ARHP Annual Meeting
Glutathione S Transferases (GST) Polymorphisms Are Independents Predictors of Efficacy and Toxicity in Lupus Nephritis Treated with Cyclophosphamide
Alexandra Audemard-Verger¹, Nicolas Martin Silva², Céline Verstuyft³, Nathalie Costedoat-Chalumeau⁴, Aurélie Hummel⁵, Véronique Le Guern⁴, Karim Sacre⁶, Olivier Meyer⁷, Eric Daugas⁸, Cecile Goujard⁹, Audrey Sultan², Thierry Lobbedez², Lionel Galicier¹⁰, Jacques Pourrat¹¹, Claire Le Hello², Michel Godin¹², Remy Morello², Marc Lambert¹³, Eric Hachulla¹³, Philippe Vanhille¹⁴, Guillaume Queffeulou¹⁵, Jacques Potier¹⁵, Jean Jacques Dion¹⁶, P Bataille¹⁷, Dominique Chauveau¹⁸, Guillaume Moulis¹⁹, Dominique Farge²⁰, Pierre Duhaut²¹, Bernadette Saint Marcoux²², Alban Deroux²³, Jennifer Manuzak²⁴, Camille Francès²⁵, Olivier Aumaître²⁶, Holy Bezanahary²⁷, Laurent Becquemont²⁸ and Boris Bienvenu²⁹, ¹Internal Medicine, CHU Caen, caen, France, ²CHU Caen, caen, France, ³Pharmacology, Hopital Bicêtre, Le Kremlin Bicêtre, France, ⁴Internal Medicine Department, Cochin Hospital, “René-Descartes Paris V” University, Paris, France, ⁵Necker, paris, France, ⁶Internal Medicine, Hospital Bichat, Paris, France, ⁷Rheumatology, Hopital Bichat, Paris, France, ⁸Internal Medicine, AP-HP Hôpital Bîchat, Paris, France, ⁹Bichat, Paris, France, ¹⁰Clinical Immunology, St Louis Hospital, Paris, France, ¹¹Nephrology, Rangeuil Hospital, Paris, France, ¹²CHU Rouen, Rouen, France, ¹³CHU Lille, Lille, France, ¹⁴Department of Nephrology and Internal Medicine, Hospital of Valenciennes, Valenciennes, France, Valenciennes, Valenciennes, France, ¹⁵Ch Cherbourg, Cherbourg, France, ¹⁶Ch Charleville Mezeiere, Charleville Mezeiere, France, ¹⁷Ch Boulogne sur Mer, Boulogne sur Mer, France, ¹⁸CH Toulouse, Toulouse, France, ¹⁹CHU Purpan, Toulouse, France, ²⁰Internal Medicine, Hopital St Louis, Paris, France, ²¹Department of Internal Medicine and RECIF, CHU Amiens, Amiens, France, ²²CH Aulnay sous Bois, Aulnay sous Bois, France, ²³Internal Medicine, CHU Grenoble, Grenoble, France, ²⁴Institut Cochin, Paris, France, ²⁵Dermatology Service, Tenon Hospital, Paris, France, ²⁶Department of Internal Medicine 2. Referal center for SLE/APS, CHU Pitié-Salpêtrière, Paris, France, ²⁷Internal Medicine, University Hospital of Limoges, Limoges, France, ²⁸KB, Paris, France, ²⁹Internal Medicine, Hospital Caen, Caen, France
Background/Purpose: Cyclophosphamide (CYC) is effective in inducing remission of lupus nephritis (LN). CYC, as a pro-drug, requires bioactivation through multiple hepatic cytochrome P450s and glutathione…
Abstract Number: 979 • 2015 ACR/ARHP Annual Meeting
HLA Class I Genes As Susceptibility Markers of Psoriatic Arthritis in Patients with Psoriasis – a Meta-Analysis
Lihi Eder¹, Fatima Abji², Cheryl Rosen³, Muhammad Haroon⁴, Vinod Chandran¹, Rubén Queiro⁵, Shelley Bull⁶, Richard J. Cook⁷, Proton Rahman⁸, Robert Winchester⁹, Oliver FitzGerald¹⁰ and Dafna D. Gladman¹, ¹Rheumatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ²University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ³Dermatology, University of Toronto, Toronto Western Hospital, Toronto, ON, Canada, ⁴Kerry General Hospital, Tralee, Ireland, ⁵Rheumatology Service, Hospital Universitario Central de Asturias, Oviedo, Spain, ⁶School of Public Health, Mount Sinai Hospital, Toronto, ON, Canada, ⁷Statistics and Actuarial Science, University of Waterloo, Waterloo, ON, Canada, ⁸Computer Sciences, Memorial University of Newfoundland, St. John's, NF, Canada, ⁹Columbia University, New York, NY, ¹⁰Department of Rheumatology, St Vincent's University Hospital, Dublin, Ireland
Background/Purpose: Genes that differentiate patients with psoriatic arthritis (PsA) from those with psoriasis alone may serve as markers for the development of PsA in psoriasis…
Abstract Number: 1265 • 2015 ACR/ARHP Annual Meeting
Genetic and Epigenetic Mapping of Very Early RA Synovial Fibroblasts
Emmanuel Karouzakis¹, Andrew Filer², Stephen Eyre³, Karim Raza⁴, Christoph Kolling⁵, Renate E. Gay¹, Beat A. Michel¹, Jane Worthington³, Christopher Buckley⁶, Steffen Gay¹, Michel Neidhart¹ and Caroline Ospelt¹, ¹University Hospital Zurich, Center of Experimental Rheumatology, Switzerland, Zurich, Switzerland, ²University of Birmingham, Birmingham, United Kingdom, ³University of Manchester,Institute of Inflammation and Repair, United Kingdom, Manchester, United Kingdom, ⁴University of Birmingham, Rheumatology Research Group, Institute of Inflammation and Ageing, United Kingdom, Birmingham, United Kingdom, ⁵Upper Extremity Dept., Schulthess Clinic Zurich, Zurich, Switzerland, ⁶University of Birmingham, Rheumatology Research Group, Birmingham, United Kingdom
Background/Purpose: Genome wide association studies (GWAS) studies from rheumatoid arthritis patients have identified SNPs, which are associated with changes in gene expression levels. Recent studies…
Abstract Number: 2589 • 2015 ACR/ARHP Annual Meeting
Associations Between 49 Susceptibility SNPs and Disease Activity Including Radiographic Damage in Early Untreated Rheumatoid Arthritis
Christian G. Ammitzbøll¹, Rudi Steffensen², Martin Bøgsted^3,4, Kaspar Rene Nielsen², Torkell Ellingsen⁵, Merete Lund Hetland⁶, Peter Junker⁵, Jan Pødenphant⁷, Mikkel Østergaard⁸, Julia Johansen⁹, Kim Hørslev-Petersen¹⁰ and Kristian Stengaard-Pedersen¹, ¹Department of Rheumatology, Aarhus University Hospital, Aarhus, Denmark, ²Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark, ³Department of Haematology, Aalborg University Hospital, Aalborg, Denmark, ⁴Department of Mathematical Sciences, Aalborg University, Aalborg, Denmark, Aalborg, Denmark, ⁵Department of Rheumatology, Odense University Hospital, Odense, Denmark, ⁶DANBIO, Center for Rheumatology and Spine Diseases, Rigshospitalet, Glostrup, Glostrup, Denmark, ⁷Department of Rheumatology, Copenhagen University Hospital at Gentofte, Glostrup, Denmark, ⁸Rigshospitalet-Glostrup, Copenhagen Center for Arthritis Research, Center for Rheumatology and Spine Diseases, Rigshospitalet - Glostrup, Glostrup, Denmark, ⁹Departments of Medicine and Oncology, Copenhagen University Hospital at Herlev, Copenhagen, Denmark, ¹⁰Rheumatology, Research Unit at King Christian X Hospital for Rheumatic Diseases, Graasten, Graasten, Denmark
Background/Purpose: Genome-wide association studies (GWAS) and meta-GWAS studies have identified >50 single nucleotide-polymorphisms (SNPs) that are associated with susceptibility to rheumatoid arthritis (RA). It is,…
Abstract Number: 3017 • 2015 ACR/ARHP Annual Meeting
TYK2 and Systemic Sclerosis Susceptibility: a New Associated Locus in the IL-12 Pathway
Elena Lopez-Isac¹, Lara Bossini-Castillo², Sandra G Guerra³, Shervin Assassi⁴, Carmen P. Simeón⁵, Patricia E. Carreira⁶, Norberto Ortego-Centeno⁷, Paloma García de la Peña⁵, Lorenzo Beretta⁸, Alessandro Santaniello⁹, Chiara Bellocchi¹⁰, Claudio Lunardi¹¹, Gianluca Moroncini¹², Armando Gabrielli¹³, Gabriela Riemekasten¹⁴, Torsten Witte¹⁵, Nicolas Hunzelmann¹⁶, Alexander Kreuter¹⁷, Jorg HW. Distler¹⁸, Alexandre E. Voskuyl¹⁹, J.K. de Vries-Bouwstra²⁰, Ariane L. Herrick²¹, Jane Worthington²², Christopher P. Denton²³, Carmen Fonseca³, T.R.D.J. Radstake²⁴, Maureen D Mayes²⁵ and Javier Martín¹, ¹Institute of Parasitology and Biomedicine López-Neyra, IPBLN-CSIC, Granada, Spain, ²Instituto de Parasitología y Biomedicina López-Neyra, IPBLN-CSIC, PTS Granada, Granada, Spain, ³Centre for Rheumatology, Royal Free and University College Medical School, London, United Kingdom, ⁴Rheumatology, University of Texas Medical School at Houston, Houston, TX, ⁵Rheumatologist, Granada, Spain, ⁶Rheumatology, Hospital Universitario 12 de Octubre, Madrid, Spain, ⁷Systemic Autoimmune Diseases Unit, Hospital Universitario San Cecilio, Granada, Spain, ⁸Rheumatology, Milan, Italy, ⁹Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena and University of Milan, Italy, Milan, Italy, ¹⁰Referral Center for Systemic Autoimmune Diseases, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano, Milan, Italy, ¹¹Department of Medicine, Università degli Studi di Verona, Verona, Italy, ¹²Dipartimento di Scienze mediche e Chirurgiche, Università politecnica delle Marche, Ancona, Italy, ¹³Clinica Medica, Università Politecnica delle Marche, Ancona, Italy, ¹⁴Clinic of Rheumatology and Clinical Immunology, Berlin, Germany, ¹⁵Department of Immunology and Rheumatology, Hannover Medical School, Hannover, Germany, ¹⁶Department of Dermatology, University of Cologne, Cologne, Germany, ¹⁷Department of Dermatology, Venereology, and Allergologie, HELIOS St. Elisabeth Hospital, Oberhausen, Germany, ¹⁸Department of Internal Medicine 3 and Institute for Clinical Immunology, University of Erlangen-Nuremberg, Erlangen, Germany, ¹⁹Rheumatology, Amsterdam Rheumatology and immunology Center, location VU University medical center, Amsterdam, Netherlands, ²⁰Rheumatology, Leiden University Medical Center, Leiden, Netherlands, ²¹Centre for Musculoskeletal Research, University of Manchester, Manchester Academic Health Science Centre, Manchester, United Kingdom, ²²Arthritis Research UK Epidemiology Unit, Manchester Academic Health Science Centre, The University of Manchester, Manchester, United Kingdom, ²³Rheumatology and Connective Tissue Diseases, University College London, London, United Kingdom, ²⁴Department of Rheumatology & Clinical Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ²⁵University of Texas - Houston Medical School, Houston, TX
Background/Purpose: Systemic sclerosis (SSc) is a complex autoimmune disease. The aetiology of the disease is largely unknown, although both environmental and a genetic factors are…
Abstract Number: 3101 • 2015 ACR/ARHP Annual Meeting
Receptor Activator of Nuclear Factor Kappa-B Ligand (RANKL) and Sclerostin Are Related to Joint Destruction in Early Rheumatoid Arthritis Unrelated to Polymorphisms of the Genes
Antonia Boman¹, Heidi Kokkonen², Ewa Berglin¹, Lisbeth Ärlestig¹ and Solbritt Rantapaa-Dahlqvist³, ¹Public Health and Clinical Medicine/Rheumatology, Umeå University, Umeå, Sweden, ²Public Health and Clinical Medicine/ Rheumatology, Umeå University, Umeå, Sweden, ³Department of Public Health and Clinical Medicine/ Rheumatology, Umeå University, Umeå, Sweden
Background/Purpose: Rheumatoid arthritis (RA) is characterized by joint inflammation and destruction of cartilage and bone. The destructive process is related to autoantibodies, genetic polymorphisms involving…
Abstract Number: 1896 • 2014 ACR/ARHP Annual Meeting
Validation of a Novel IFN-Regulated Gene Score As Biomarker in Chronic Atypical Neutrophilic Dermatosis with Lipdoystrophy and Elevated Temperature (CANDLE) Patients on Baricitinib, a Janus Kinase 1 /2 Inhibitor, a Proof of Concept
Hanna Kim¹, Steve Brooks², Yin Liu¹, Adriana Almeida de Jesus³, Gina A. Montealegre Sanchez¹, Dawn C. Chapelle¹, Nicole Plass¹, Yan Huang¹ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Diseases Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ²NIAMS/NIH, Bethesda, MD, ³Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD
Background/Purpose CANDLE syndrome is a novel autoinflammatory disease with strong IFN response signature. We hypothesize that IFN dysregulation may drive clinical manifestations in CANDLE and…
Abstract Number: 1290 • 2014 ACR/ARHP Annual Meeting
Knee Osteoarthritis Progression Is Predictable By Genetic Polymorphisms. Results from a Multicenter Association Study
Francisco J Blanco¹, Ingrid Möller², Nerea Bartolome³, Marta Artieda³, Diego Tejedor³, Antonio Martínez⁴, Eulàlia Montell⁵, Helena Martínez⁵, Marta Herrero⁵ and Josep Vergés⁵, ¹INIBIC-Hospital Universitario A Coruña, A Coruña, Spain, ²Instituto Poal de Reumatología., Barcelona, Spain, ³Progenika Biopharma, a Grifols Company, Derio, Bizkaia, Spain, ⁴Progenika, a Grifols Company, Derio, Bizkaia, Spain, ⁵Pharmascience Division, Bioiberica S.A., Barcelona, Spain
Background/Purpose: Single Nucleotide Polymorphisms (SNPs) are inherited genetic variations that can predispose or protect individuals against clinical events. Osteoarthritis (OA) has a multifactorial etiology with…

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